ArticleEuropean journal of neurology2025
Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.
Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2026Pooled it
- Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3.Annals of neurology · 2026Article
- Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Cerebellum (London, England) · 2026Article
- Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.European journal of neurology · 2026Article
- Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience.Journal of neurology · 2025Article
- Video head impulse test differentiates RFC1-CANVAS, FGF14-SCA27B, and idiopathic late-onset cerebellar ataxias.Journal of neurology · 2025Article
- Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.European journal of neurology · 2025Article
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48 authors.
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Abstract
backgroundThis study aimed to investigate the prevalence, characteristics, and determinants of peripheral neuropathy in a large cohort of patients affected by spinocerebellar ataxia type 27B (SCA27B), a late-onset cerebellar ataxia caused by heterozygous GAA repeat expansions in the first intron of the FGF14 gene.
methodsA retrospective, multicenter study in which medical records of SCA27B patients diagnosed between January 2023 and July 2024 in 21 French ataxia/neurogenetic centers were reviewed. Those who had undergone electrodiagnostic study were included.
resultsAmong 332 SCA27B patients, 170 had undergone an electrodiagnostic study and were included. Forty-two (25%) were diagnosed with neuropathy: 16 with length-dependent axonal sensorimotor neuropathy, 24 with length-dependent axonal sensory neuropathy, one with sensory, and one with motor neuronopathy. Neuropathy was associated with male sex, older age at electrodiagnostic study, and risk factors for neuropathy but not with GAA expansion sizes. Patients with neuropathy had more severe disability at the last visit (median SARA score 12 vs. 8, p = 0.0024).
conclusionsThe prevalence of neuropathy in SCA27B patients was similar to that reported in the elderly general population. Neuropathies were predominantly non-specific length-dependent axonal neuropathies, primarily driven by aging and known risk factors rather than the underlying genetic abnormality.
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